35 Questions
What is the incidence of Common Variable Immunodeficiency (CVID) worldwide?
1:25,000-50,000
What are the genetic mutations associated with Common Variable Immunodeficiency (CVID)?
Mutations in ICOS, CD19, BAFF-R, TNFRSF13B gene sets
What is the main cause of Common Variable Immunodeficiency (CVID) in 90% of cases?
Currently unknown
What is the prevalence of Common Variable Immunodeficiency (CVID) in males compared to females?
Equal
What is the main genetic risk factor associated with Common Variable Immunodeficiency (CVID)?
Cluster of at least 13 variants in specific genes
Which gene mutation affects the B cell survival, maturation, and antibody production in Common Variable Immunodeficiency (CVID)?
TNFRSF13B (TACI) gene mutation
What is an example of a primary immunodeficiency characterized by a combined T- and B-cell defect?
SCID (severe combined immunodeficiency syndrome)
Which gene deficiency is associated with the most common autosomal recessive SCID?
Adenosine deaminase (ADA)
What are the manifestations of SCID in infants?
Life-threatening infections (ear, lung, thrush, chronic diarrhea)
Name a low virulence organism that can cause severe disease in individuals with SCID.
Pneumocystis carinii
What type of genetic mutation in the CD19 gene can lead to B-cell defects?
Multiple mutations
What is the genetic mutation associated with X-linked severe combined immunodeficiency (X-SCID)?
Defects in common gamma chain (ɣc) of cytokine receptors
What is the consequence of defects in genes responsible for V(D)J recombination of T cell receptor and B cell receptor?
T cells and B cells lack diversity in their receptors to recognize and fight pathogens
What syndrome is characterized by defects in genes that allow rearrangement of T cell receptor and B cell receptor?
Omenn Syndrome
In which immunodeficiency disorder are T cells and B cells produced but not functional and limited in number?
Combined T- and B-cell defect (SCID)
What is the main treatment for severe combined immunodeficiency (SCID) in infants?
Hematopoietic stem-cell transplant from closely related sibling
What is the consequence of a mutation in the common gamma chain (ɣc) of cytokine receptors for cytokines?
None of the cytokines can function as there is no receptor to bind
What is the reason for washing the gel extensively in the process of identifying immunoglobulin components?
To remove any non-specifically bound proteins and leave only the immune complexes containing the appropriate immunoglobulin components.
What is the significance of the narrow band or 'M protein' in the electrophoresis of serum proteins?
It indicates the presence of a monoclonal plasma cell disorder.
Which two processes during B cell development increase the risk of malignant transformation?
V(D)J recombination and somatic hypermutation.
Why are B cell malignancies more common than T cell malignancies?
Because B cells undergo V(D)J recombination and somatic hypermutation, which increase the risk of malignant transformation.
What is the significance of class switch recombination in B cells?
It can lead to incorrect recombination, increasing the risk of malignant transformation.
Why do mature B cells divide in secondary lymphoid tissue?
To allow for the proliferation of antigen-activated B cells and the formation of antibodies.
Explain one mechanism by which cancer cells avoid immune attack.
Down regulation of MHC class I molecules
Describe the role of NK cells in avoiding immune attack by cancer cells.
When dendritic cells present tumor antigens, they induce T cell toleration due to lack of co-stimulatory signals.
How do cancer cells create a physical barrier to immune cells?
By producing collagen that forms tumor nests
Explain the concept of antigenic modulation in immune evasion by cancer cells.
It refers to the lack of immunogenic antigens being expressed by cancer cells.
Discuss the relationship between chronic inflammation and cancer risk.
Chronic inflammation increases the risk of cancer.
Explain the significance of immune surveillance in cancer prevention.
The immune system plays an important role in preventing cancer through immune surveillance.
Explain how cancer cells evade the immune system using the PD-L1/PD-1 pathway.
Cancer cells express PD-L1, which interacts with PD-1 on T cells, leading to immune evasion by inhibiting T cell function.
Describe the role of immune checkpoint proteins CTLA-4 and PD-1 in cancer immunotherapy.
CTLA-4 and PD-1 are targets for immune checkpoint blockade therapy, which aims to unleash anticancer T cell responses.
How do cancer cells utilize TGF-β, IL-10, and IDO to inhibit T cells?
Cancer cells secrete TGF-β, IL-10, and IDO to create an immunosuppressive microenvironment that inhibits T cell function.
Explain the mechanism of immune checkpoint blockade therapy in cancer treatment.
Immune checkpoint blockade therapy involves using antibodies against proteins like CTLA-4, PD-1, and PD-L1 to unleash and enhance T cell responses against cancer cells.
How does adoptive cellular therapy contribute to cancer treatment?
Adoptive cellular therapy involves genetically modifying T cells to create CAR T cells that can target specific proteins on cancer cells, enhancing the host immune response against cancer.
What is the significance of immune surveillance in cancer development?
Immunosurveillance plays a crucial role in detecting and eliminating cancer cells before they develop into tumors, helping to prevent cancer progression.
Test your knowledge on immunodeficiency disorders such as selective IgA deficiency and X-linked agammaglobulinemia. Learn about the symptoms, prevalence, and treatment options for these conditions.
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